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MLH1 c.1556A>G ;(p.E519G)
Variant ID: 3-37070421-A-G
NM_000249.3(
MLH1
):c.1556A>G;(p.E519G)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
Human Mutation
Drost, Mark M; Koppejan, Hester H; de Wind, Niels N
Publication Date: 2013-11
Variant appearance in text: MLH1: 1556A>G
PubMed Link:
24027009
Variant Present in the following documents:
Main text
View BVdb publication page